CFTR c.2497T>C ;(p.F833L)

Variant ID: 7-117234990-T-C

NM_000492.3(CFTR):c.2497T>C;(p.F833L)

This variant was identified in 5 publications

View GRCh38 version.




Publications:


Recapitulating thyroid cancer histotypes through engineering embryonic stem cells.

Nature Communications
Veschi, Veronica V; Turdo, Alice A; Modica, Chiara C; Verona, Francesco F; Di Franco, Simone S; Gaggianesi, Miriam M; Tirrò, Elena E; Di Bella, Sebastiano S; Iacono, Melania Lo ML; Pantina, Vincenzo Davide VD; Porcelli, Gaetana G; Mangiapane, Laura Rosa LR; Bianca, Paola P; Rizzo, Aroldo A; Sciacca, Elisabetta E; Pillitteri, Irene I; Vella, Veronica V; Belfiore, Antonino A; Bongiorno, Maria Rita MR; Pistone, Giuseppe G; Memeo, Lorenzo L; Colarossi, Lorenzo L; Giuffrida, Dario D; Colarossi, Cristina C; Vigneri, Paolo P; Todaro, Matilde M; Stassi, Giorgio G
Publication Date: 2023-03-11

Variant appearance in text: CFTR: 2497T>C; F833L
PubMed Link: 36906579
Variant Present in the following documents:
  • 41467_2023_36922_MOESM4_ESM.xls, sheet 2
View BVdb publication page



Synergy of cAMP and calcium signaling pathways in CFTR regulation.

Proceedings Of The National Academy Of Sciences Of The United States Of America
Bozoky, Zoltan Z; Ahmadi, Saumel S; Milman, Tal T; Kim, Tae Hun TH; Du, Kai K; Di Paola, Michelle M; Pasyk, Stan S; Pekhletski, Roman R; Keller, Jacob P JP; Bear, Christine E CE; Forman-Kay, Julie D JD
Publication Date: 2017-03-14

Variant appearance in text: CFTR: F833L
PubMed Link: 28242698
Variant Present in the following documents:
  • Main text
  • pnas.201613546.pdf
View BVdb publication page



A Landscape of Pharmacogenomic Interactions in Cancer.

Cell
Iorio, Francesco F; Knijnenburg, Theo A TA; Vis, Daniel J DJ; Bignell, Graham R GR; Menden, Michael P MP; Schubert, Michael M; Aben, Nanne N; Gonçalves, Emanuel E; Barthorpe, Syd S; Lightfoot, Howard H; Cokelaer, Thomas T; Greninger, Patricia P; van Dyk, Ewald E; Chang, Han H; de Silva, Heshani H; Heyn, Holger H; Deng, Xianming X; Egan, Regina K RK; Liu, Qingsong Q; Mironenko, Tatiana T; Mitropoulos, Xeni X; Richardson, Laura L; Wang, Jinhua J; Zhang, Tinghu T; Moran, Sebastian S; Sayols, Sergi S; Soleimani, Maryam M; Tamborero, David D; Lopez-Bigas, Nuria N; Ross-Macdonald, Petra P; Esteller, Manel M; Gray, Nathanael S NS; Haber, Daniel A DA; Stratton, Michael R MR; Benes, Cyril H CH; Wessels, Lodewyk F A LFA; Saez-Rodriguez, Julio J; McDermott, Ultan U; Garnett, Mathew J MJ
Publication Date: 2016-07-28

Variant appearance in text: CFTR: 2497T>C; F833L
PubMed Link: 27397505
Variant Present in the following documents:
  • mmc3.xlsx, sheet 2
View BVdb publication page



Regulatory R region of the CFTR chloride channel is a dynamic integrator of phospho-dependent intra- and intermolecular interactions.

Proceedings Of The National Academy Of Sciences Of The United States Of America
Bozoky, Zoltan Z; Krzeminski, Mickael M; Muhandiram, Ranjith R; Birtley, James R JR; Al-Zahrani, Ateeq A; Thomas, Philip J PJ; Frizzell, Raymond A RA; Ford, Robert C RC; Forman-Kay, Julie D JD
Publication Date: 2013-11-19

Variant appearance in text: CFTR: F833L
PubMed Link: 24191035
Variant Present in the following documents:
  • Main text
View BVdb publication page



Phosphorylation-dependent 14-3-3 protein interactions regulate CFTR biogenesis.

Molecular Biology Of The Cell
Liang, Xiubin X; Da Paula, Ana Carina AC; Bozóky, Zoltán Z; Zhang, Hui H; Bertrand, Carol A CA; Peters, Kathryn W KW; Forman-Kay, Julie D JD; Frizzell, Raymond A RA
Publication Date: 2012-03

Variant appearance in text: CFTR: F833L
PubMed Link: 22278744
Variant Present in the following documents:
  • Main text
  • 996.pdf
View BVdb publication page